Trial reportBritish journal of haematology2013
Genetic determinants of haemolysis in sickle cell anaemia.
Trial report in British journal of haematology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT02824471 (Sickle Cell Disease), which is not on this map. Cited by 31 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Sickle Cell Disease (SCD) Biochip': Towards a Simple and Reliable Way to Monitor Sickle Cell Disease
Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 56 citations in OpenAlex.
- Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.JAMA network open · 2023Pooled it
- Sequencing and health data resource of children of African ancestry.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Plasma free hemoglobin is associated with LDH, AST, total bilirubin, reticulocyte count, and the hemolysis score in patients with sickle cell anemia.Annals of hematology · 2025Article
- Plasma free hemoglobin is associated with LDH, AST, total bilirubin, reticulocyte count, and the hemolysis score in patients with sickle cell anemia.Research square · 2024Article
- Relationships Between Markers of Iron Status and Hematological Parameters in Patients With Sickle Cell Disease.Advances in hematology · 2024Article
- Metabolic signatures of cardiorenal dysfunction in plasma from sickle cell patients as a function of therapeutic transfusion and hydroxyurea treatment.Haematologica · 2023Article
- In vivo evaluation of the effect of sickle cell hemoglobin S, C and therapeutic transfusion on erythrocyte metabolism and cardiorenal dysfunction.American journal of hematology · 2023Article
- Alpha globin gene copy number and incident ischemic stroke risk among Black Americans.medRxiv : the preprint server for health sciences · 2023Article
- Alpha globin gene copy number and incident ischemic stroke risk among Black Americans.Frontiers in stroke · 2023Article
- Metabolic correlates to critical speed in murine models of sickle cell disease.Frontiers in physiology · 2023Article
- Evaluation of the relationship between intravascular hemolysis and clinical manifestations in sickle cell disease: decreased hemopexin during vaso-occlusive crises and increased inflammation in acute chest syndrome.Annals of hematology · 2022Article
- Assessment of Reticulocyte and Erythrocyte Parameters From Automated Blood Counts in Vaso-Occlusive Crisis on Sickle Cell Disease.Frontiers in medicine · 2022Article
- SEA and GATOR 10 Years Later.Cells · 2021Review
- Multiple-ancestry genome-wide association study identifies 27 loci associated with measures of hemolysis following blood storage.The Journal of clinical investigation · 2021Article
- Haemolysis in sickle cell anaemia: effects of polymorphisms in α-globin gene regulatory elements.British journal of haematology · 2019Article
- Pathophysiology of Sickle Cell Disease.Annual review of pathology · 2019Review
- Sickle cell disease in the era of precision medicine: looking to the future.Expert review of precision medicine and drug development · 2019Article
- Biomarker signatures of sickle cell disease severity.Blood cells, molecules & diseases · 2018Article
- Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits.Nature communications · 2017Article
- Intravascular hemolysis and the pathophysiology of sickle cell disease.The Journal of clinical investigation · 2017Review
Corrections and comments
- Erratum issuedCorrigendum.2014
- Erratum issuedKato, Gregory R [corrected to Kata, Gregory J]
Authors and funding
22 authors at 8 institutions in 2 countries.
Funding
Abstract
Haemolytic anaemia is variable among patients with sickle cell anaemia and can be estimated by reticulocyte count, lactate dehydrogenase, aspartate aminotransferase and bilirubin levels. Using principal component analysis of these measurements we computed a haemolytic score that we used as a subphenotype in a genome-wide association study. We identified in one cohort and replicated in two additional cohorts the association of a single nucleotide polymorphism in NPRL3 (rs7203560; chr16p13·3) (P = 6·04 × 10(-07) ). This association was validated by targeted genotyping in a fourth independent cohort. The HBA1/HBA2 regulatory elements, hypersensitive sites (HS)-33, HS-40 and HS-48 are located in introns of NPRL3. Rs7203560 was in perfect linkage disequilibrium (LD) with rs9926112 (r(2) = 1) and in strong LD with rs7197554 (r(2) = 0·75) and rs13336641 (r(2) = 0·77); the latter is located between HS-33 and HS-40 sites and next to a CTCF binding site. The minor allele for rs7203560 was associated with the -∝(3·7) thalassaemia gene deletion. When adjusting for HbF and ∝ thalassaemia, the association of NPRL3 with the haemolytic score was significant (P = 0·00375) and remained significant when examining only cases without gene deletion∝ thalassaemia (P = 0·02463). Perhaps by independently down-regulating expression of the HBA1/HBA2 genes, variants of the HBA1/HBA2 gene regulatory loci, tagged by rs7203560, reduce haemolysis in sickle cell anaemia.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.